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Maria-Liliana Iliescu

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

SCREENINGUL NEONATAL PENTRU BOLI RARE IN REGIUNEA DE NORD-EST A ROMANIEI: REZULTATELE PROGRAMULUI PENTRU PERIOADA 2009-2012

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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 4, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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SCREENINGUL NEONATAL PENTRU BOLI RARE IN REGIUNEA DE NORD-EST A ROMANIEI: REZULTATELE PROGRAMULUI PENTRU PERIOADA 2009-2012

and

ABSTRACT

Scop. Evaluarea rezultatelor Programului naţional de sǎnǎtate de screening neonatal pentru boli rare în partea de nord-est a României, pentru perioada 2009-2012.

Metodologie. În acest studiu descriptiv transversal au fost cuprinse cohortele de nou-născuţi înregistraţi în perioada 2009-2012 în maternităţile din regiunea de nord-est a României. Screeningul a fost realizat pentru două boli: hipotiroidism congenital (HC) şi fenilcetonurie (PKU). Determinarea hormonului stimulant tiroidian (TSH) şi a fenilalaninei (Phe) a fost realizatǎ prin metodǎ fluorimetricǎ. Nou-născuţii la care s-au înregistrat rezultate pozitive la testele de screening (TSH peste 9 μIU/L, Phe peste 3 mg/dl) au fost supuşi retestării.

Rezultate. În perioada menţionatǎ au fost incluşi în screening 76.308 nou-născuţi. Au fost detectate 9 cazuri cu HC şi 5 cazuri cu PKU. Incidenţa HC a fost de 1: 8.478, iar pentru PKU de 1: 15.261, pentru întreaga perioadă studiatǎ.

Concluzii. Screeningul neonatal reprezintă un program important de sănătate publică care permite diag nosticarea precoce şi prevenirea consecinţelor severe ale HC şi PKU.

Key words: newborn screening, congenital hypothyroidism, phenylketonuria, Romania

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NEWBORN SCREENING FOR RARE DISEASES IN THE NORTH-EAST PART OF ROMANIA: RESULTS OF THE NEWBORN SCREENING PROGRAM 2009-2012

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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 4, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
DOAJ
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HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

NEWBORN SCREENING FOR RARE DISEASES IN THE NORTH-EAST PART OF ROMANIA: RESULTS OF THE NEWBORN SCREENING PROGRAM 2009-2012

and

ABSTRACT

Objective. To evaluate the Newborn Screening Program for rare diseases – congenital hypothyroidism (CH) and phenylketonuria (PKU) – in the north-east part of Romania from 2009 to 2012.

Methods. To realize the transversal descriptive study, we studied the cohorts formed by the babies who were borne between 2009-2012 in the maternities situated in the north-east part of the country. The screening was performed for two diseases: phenylketonuria (PKU) and congenital hypothyroidism (CH). Thyroid stimulating hormone (TSH) and phenylalanine (Phe) were tested by fluorometric assay. Newborns with abnormal screening results (TSH > 9 μIU/L, Phe > 3 mg/dl) were re-examined.

Results. A total of 76,308 newborns were screened. From these, were detected 9 cases with CH and 5 cases with PKU. The incidence of CH was 1: 8,478 and of PKU1: 15,261, for the whole period.

Conclusions. Newborn screening programme represent an important public health programme that allows early diagnosis and prevention of severe consequences for PKU and CH.

Key words: newborn screening, congenital hypothyroidism, phenylketonuria, Romania

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DIABETUL ZAHARAT DIN FIBROZA CHISTICA (MUCOVISCIDOZA)

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Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 1, An 2014
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

DIABETUL ZAHARAT DIN FIBROZA CHISTICA (MUCOVISCIDOZA)

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REZUMAT

Diabetul asociat fibrozei chistice este o entitate distinctă comparativ cu diabetul zaharat tip 1 şi 2, dar care are şi simptome caracteristice acestora. Odata cu prelungirea speranţei de viaţa, şi prevalenţa diabetului a crescut, asociindu-se cu un declin mai sever al funcţiei pulmonare şi cu stare nutriţională mai precară comparativ cu ale pacienţilor cu fibroză chistică, dar fără diabet. Autorii prezintă date actuale cu privire la prevalenţa şi fiziopatologia bolii, tabloul clinic, examenele utile în stabilirea diagnosticului, posibilităţile terapeutice şi prognosticul bolii. Concluzionăm că diagnosticarea precoce şi intervenţiile terapeutice adecvate pot diminua impactul negativ al diabetului asupra funcţiei pulmonare şi satusului nutriţional în FC.

Cuvinte cheie: fibroza chistica, diabet zaharat, copil

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CYSTIC FIBROSIS-RELATED DIABETES

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Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 1, An 2014
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
DOAJ
Scopus
NLM Catalog
Ebsco Host - Medline
Google Academic
Semantic Scholar

HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

CYSTIC FIBROSIS-RELATED DIABETES

, , , and

ABSTRACT

Cystic fibrosis-related diabetes is an entity distinct from diabetes mellitus type 1 and 2, but with symptoms characteristic to them. Along with the extension of the life expectancy, the prevalence of diabetes increased in association with a more severe decline of the lung function and a poorer nutritional status in comparison to that of people with cystic fibrosis but without diabetes. The authors present current data regarding the prevalence and physiopathology of the disease, the clinical picture, and the useful examinations in establishing the diagnosis, the therapeutic possibilities and disease prognostic. We conclude that the early diagnosis and appropriate therapeutic interventions may diminish the negative impact of diabetes on the lung function and the nutritional status in cystic fibrosis.

Keywords: cystic fibrosis, diabetes mellitus, child

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